ZCWPW1 Gene - Zinc Finger CW-Type and PWWP Domain Containing 1
A chromatin-associated protein involved in epigenetic regulation and meiotic recombination.
Gene Information Card
| Symbol | ZCWPW1 |
|---|---|
| Full Name | zinc finger CW-type and PWWP domain containing 1 |
| Gene Type | protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 55063 ncbi.nlm.nih.gov/gene/55063 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q9H0M0 |
| OMIM ID | 618205 |
| HGNC ID | 28978 |
| Aliases | FLJ12735, PRO4336 |
Description
ZCWPW1 encodes a protein containing a CW-type zinc finger and a PWWP domain, both of which are known to interact with methylated histones. The protein is involved in chromatin remodeling and is specifically required for meiotic recombination, particularly in the recognition of H3K4me3 marks during double-strand break repair. ZCWPW1 is also implicated in epigenetic regulation and has been studied in the context of cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect chromatin regulation, potentially influencing tumorigenesis. | COSMIC lists somatic mutations in multiple cancer types; ClinVar reports variants of uncertain significance. |
| Infertility (male) | ZCWPW1 is essential for spermatogenesis; loss-of-function mutations may impair meiotic recombination. | Mouse models show infertility; human variants are being investigated. |
| Developmental disorders | Potential impact on epigenetic programming during development. | Limited evidence; some variants in ClinVar are associated with neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High (nTPM ~50) | Highest expression, consistent with meiotic role. |
| Ovary | Moderate (nTPM ~20) | Expressed during oogenesis. |
| Bone Marrow | Low (nTPM ~5) | Detected in hematopoietic cells. |
| Brain | Low (nTPM ~3) | Minimal expression. |
| Liver | Not detected | No significant expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | Low (nTPM ~2) | Chronic myeloid leukemia cell line. |
| HeLa | Low (nTPM ~1) | Cervical cancer cell line. |
| HUVEC | Not detected | Endothelial cells. |
| Testicular germ cell lines | High (nTPM ~40) | Relevant to meiotic function. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare (<0.01%) | Predicted loss-of-function; may impair protein function. |
| c.567A>G (p.Ile189Met) | Missense | Somatic in cancer (0.5%) | Unknown; possibly affects histone binding. |
| c.890G>A (p.Arg297Gln) | Missense | Germline in ClinVar (0.1%) | Uncertain significance. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein are likely loss-of-function, impairing meiotic recombination and chromatin binding.
Gain of Function (GOF)
No evidence of gain-of-function mutations; most variants are loss-of-function or neutral.
Dominant Negative (DN)
Not established; ZCWPW1 functions as a monomer, so dominant-negative effects are unlikely.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • histone binding |
| • metal ion binding | • zinc ion binding |
| • nucleus | • chromosome |
| • meiotic recombination | • double-strand break repair |
Pathways
• Meiotic recombination
• Chromatin organization
• Epigenetic regulation
Protein Summary
ZCWPW1 is a 648-amino acid protein with a CW-type zinc finger domain and a PWWP domain. The CW domain binds to methylated histone H3K4, while the PWWP domain recognizes H3K36me3. These interactions are crucial for targeting the protein to specific chromatin regions during meiosis. ZCWPW1 is involved in the repair of DNA double-strand breaks during meiotic recombination, ensuring proper chromosome segregation. Its expression is predominantly in germ cells, and it plays a critical role in fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZCWPW1 Knockout HEK293 Cell Line | EDJ-KQ17454 | Human | 55063 | Details Get a Quote |
| ZCWPW1 Knockout A-549 Cell Line | EDJ-KQ49643 | Human | 55063 | Details Get a Quote |
| ZCWPW1 Knockout HCT 116 Cell Line | EDJ-KQ49644 | Human | 55063 | Details Get a Quote |
| ZCWPW1 Knockout HeLa Cell Line | EDJ-KQ49645 | Human | 55063 | Details Get a Quote |
